A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14669711



Internal ID5111938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:23718767..23811145hg38UCSC Ensembl
Innerchr13:23718775..23811137hg38UCSC Ensembl
Outerchr13:23718759..23811153hg38UCSC Ensembl
chr13:24292906..24385284hg19UCSC Ensembl
Innerchr13:24292914..24385276hg19UCSC Ensembl
Outerchr13:24292898..24385292hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg3892379
hg1992379
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631531
Supporting Variants
SamplesNA18559
Known GenesMIPEP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14669711
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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